Works by Appendino, Juan P.

Results: 7

KCTD7‐related progressive myoclonic epilepsy: Report of 42 cases and review of literature.

Published in:

Epilepsia (Series 4), 2024, v. 65, n. 3, p. 709, doi. 10.1111/epi.17880

By:

Yoganathan, Sangeetha;
Whitney, Robyn;
Thomas, Maya;
Danda, Sumita;
Chettali, Akbar Mohamed;
Prasad, Asuri N.;
Farhan, Sali M. K.;
AlSowat, Daad;
Abukhaled, Musaad;
Aldhalaan, Hesham;
Gowda, Vykuntaraju K.;
Kinhal, Uddhava V.;
Bylappa, Arun Y.;
Konanki, Ramesh;
Lingappa, Lokesh;
Parchuri, Bindu Madhavi;
Appendino, Juan P.;
Scantlebury, Morris H.;
Cunningham, Jessie;
Hadjinicolaou, Aristides

Publication type:

Article

Channelopathies in epilepsy: an overview of clinical presentations, pathogenic mechanisms, and therapeutic insights.

Published in:

Journal of Neurology, 2024, v. 271, n. 6, p. 3063, doi. 10.1007/s00415-024-12352-x

By:

Ng, Andy Cheuk-Him;
Chahine, Mohamed;
Scantlebury, Morris H.;
Appendino, Juan P.

Publication type:

Article

The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy.

Published in:

Journal of Neurology, 2022, v. 269, n. 4, p. 2162, doi. 10.1007/s00415-021-10808-y

By:

Cherian, Christina;
Appendino, Juan P.;
Ashtiani, Setareh;
Federico, Paolo;
Molnar, Christine P.;
Kerr, Marina;
Khan, Aneal;
Au, Ping Yee Billie;
Klein, Karl Martin

Publication type:

Article

Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 8, p. 1395, doi. 10.1002/acn3.50824

By:

Punetha, Jaya;
Karaca, Ender;
Gezdirici, Alper;
Lamont, Ryan E.;
Pehlivan, Davut;
Marafi, Dana;
Appendino, Juan P.;
Hunter, Jill V.;
Akdemir, Zeynep C.;
Fatih, Jawid M.;
Jhangiani, Shalini N.;
Gibbs, Richard A.;
Innes, A. Micheil;
Posey, Jennifer E.;
Lupski, James R.

Publication type:

Article

Familial neonatal seizures caused by the Kv7.3 selectivity filter mutation T313I.

Published in:

Epilepsia Open, 2020, v. 5, n. 4, p. 562, doi. 10.1002/epi4.12438

By:

Maghera, Jasmine;
Li, Jingru;
Lamothe, Shawn M.;
Braun, Marvin;
Appendino, Juan P.;
Au, P. Y. Billie;
Kurata, Harley T.

Publication type:

Article

Chronic Herpes Simplex Virus Encephalitis with Unexpected Neuropathological Findings.

Published in:

Canadian Journal of Neurological Sciences, 2024, v. 51, n. 6, p. 880, doi. 10.1017/cjn.2023.311

By:

Sjonnesen, Kirsten;
Hader, Walter;
Xu, Qi;
Jacobs, Julia;
Federico, Paolo;
Langdon, Kristopher D.;
Appendino, Juan P.

Publication type:

Article

Removing barriers to accessing medical cannabis for paediatric patients.

Published in:

Paediatrics & Child Health (1205-7088), 2024, v. 29, n. 1, p. 12, doi. 10.1093/pch/pxac129

By:

Huntsman, Richard J;
Elliott, Jesse;
Lewis, Evan;
Moore-Hepburn, Charlotte;
Alcorn, Jane;
Mansell, Holly;
Appendino, Juan P;
Bélanger, Richard E;
Corley, Scott;
Crooks, Bruce;
Denny, AnneMarie M;
Finkelstein, Yaron;
Finley, Allen;
Fung, Ryan;
Gilpin, Andrea;
Litalien, Catherine;
Jacobs, Julia;
Oberlander, Timothy F;
Palm, Ashley;
Palm, Jacob

Publication type:

Article